High-resolution melting analysis to screen the ST18 gene functional risk variant for pemphigus vulgaris: The occasion to open a debate on its usefulness in clinical setting
| Autor: | Angelo Minucci, Ettore Capoluongo, Giovanni Di Zenzo, Luca Fania, Cinzia Mazzanti, Giovanni Luca Scaglione, Maria Michela Lavieri, Maria De Bonis, Elisa De Paolis |
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| Přispěvatelé: | De Bonis, M., De Paolis, E., Scaglione, G. L., Fania, L., Lavieri, M. M., Mazzanti, C., Di Zenzo, G., Minucci, A., Capoluongo, Ettore Domenico |
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Genotype Melting temperature Clinical Biochemistry Computational biology Biology Nucleic Acid Denaturation Polymorphism Single Nucleotide Sensitivity and Specificity DNA sequencing Melting curve analysis High Resolution Melt Pathology and Forensic Medicine 03 medical and health sciences 0302 clinical medicine Risk Factors medicine Humans Genetic Predisposition to Disease Molecular Biology Gene Pemphigus vulgaris Reproducibility of Results ST18 Sequence Analysis DNA medicine.disease Repressor Proteins High Resolution melting analysi 030104 developmental biology Risk variant Molecular Diagnostic Techniques 030220 oncology & carcinogenesis Pemphigus vulgari Pemphigus |
| Popis: | The ST18 ˗497-65050 T > C polymorphisms (rs17315309) exhibit a very strong association in the pathogenesis of Pemphigus Vulgaris (PV) and could represent a new potential molecular target for the treatment of disease. The present study aimed to establish a low-cost, sensitive and reliable assay using high-resolution melting curve analysis (HRMA) on magnetic induction rotor-based platform, the Magnetic Induction Cycler (MIC) (Bio molecular Systems). HRMA assay was able to identify easily and unambiguously the c.-497-65050 T > C genotypes evaluating melting curve shape and melting temperature (Tm). The results of HRMA were validated by direct DNA sequencing. The HRMA is rapid, sensitive, low-cost and high-throughput assay to screen the rs17315309 variant and could be used in clinical diagnostic laboratories. |
| Databáze: | OpenAIRE |
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